title: The optimized use of gas chromatography-mass spectrometry and high performance liquid chromatography to analyse the serum bile acids of patients with metabolic cholestasis and peroxisomal disorders.
abstract: We have measured the bile acids in human serum as methyl ester-trimethylsilyl ethers by gas chromatography-mass spectrometry (GC-MS) using an electron ionization procedure. The overall method was validated and the detection limit (0.4 mumol/l), linearity (2-30 mumol/l), intra-day and inter-day precision, accuracy and recovery (96.2% for nor-23-deoxycholic acid as internal standard) were measured. Serum C24-bile acids profiles from 43 cholestatic patients were measured by GC-MS and by HPLC. The results obtained with the two methods were well correlated and the criteria for selecting either HPLC or GC-MS identified. The serum C24- and C27-bile acids and C29 dicarboxylic bile acid profiles for patients with generalized peroxisomal deficiencies, like Zellweger syndrome (n = 5), neonatal adrenoleukodystrophy (n = 1), infantile Refsum disease (n = 2) and from a single peroxisomal deficiency (n = 1) were also measured by GC-MS.
authors.affiliation: Service de Biochimie, Hôpital Saint-Joseph, Paris, France.
authors.forename: F
authors.initials: F
authors.lastname: Courillon
authors.forename: M F
authors.initials: MF
authors.lastname: Gerhardt
authors.forename: A
authors.initials: A
authors.lastname: Myara
authors.forename: F
authors.initials: F
authors.lastname: Rocchiccioli
authors.forename: F
authors.initials: F
authors.lastname: Trivin
mesh_terms: D000326:Adrenoleukodystrophy / Q000503:physiopathology; D001647:Bile Acids and Salts / Q000097:blood*; D002779:Cholestasis / Q000503:physiopathology*; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods; D006801:Humans; D018901:Peroxisomal Disorders / Q000503:physiopathology*; D012035:Refsum Disease / Q000503:physiopathology; D012044:Regression Analysis; D015203:Reproducibility of Results; D015211:Zellweger Syndrome / Q000503:physiopathology
chemical_list: D001647:Bile Acids and Salts